METHIONINE MALABSORPTION SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: SMITH-STRANG DISEASE
OASTHOUSE URINE DISEASE
Number of Symptoms 11
OrphanetNr:
OMIM Id: 250900
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0003355) Aminoaciduria 65 / 7739
2
(HPO:0000635) Blue irides 25 / 7739
3
(HPO:0001250) Seizures 1245 / 7739
4
(HPO:0001249) Intellectual disability 1089 / 7739
5
(HPO:0002014) Diarrhea 225 / 7739
6
(HPO:0011364) White hair 4 / 7739
7
(HPO:0003612) Positive ferric chloride test 2 / 7739
8
(HPO:0002789) Tachypnea 48 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
(OMIM) Hyperpnea 1 / 7739
11
(OMIM) Alpha hydroxybutyric aciduria 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Smith and Strang (1958) described a disorder, which they called oasthouse urine disease. The infant had white hair, hyperpnea, convulsions, and mental retardation. The urine had a characteristic and unique odor like that of an oasthouse (building for ...